Ehlers-Danlos syndrome (EDS) type IV is a hereditary autosomal dominant disease associated with skin and vascular fragility, hyperextensibility and joint hypermobility. Spontaneous arterial rupture is one of its higher-risk features.The authors describe a case of a woman with EDS type IV who presented with a spontaneous breast haematoma associated with a pseudoaneurysm of a branch of the left internal mammary artery. The patient underwent a minimally invasive endovascular approach that was uneventful. However, 6 months later, she presented in the emergency room with a similar episode on the contralateral breast. There were no signs of active bleeding, and she stayed under surveillance. Nine months later, she was asymptomatic.Aneurysms of branches of the internal mammary artery are rare and prone to rupture. Early diagnosis and treatment are imperative, and this case demonstrates that an endovascular approach is a safe treatment option.

This report describes a unique case of vascular Ehlers-Danlos syndrome (vEDS) characterized by multiple spontaneous direct carotid-cavernous sinus fistulas (CCF). The patient initially presented with ocular symptoms and was effectively treated with transarterial coil embolization. Five years later, the patient developed recurrent contralateral CCF that required complex endovascular techniques. Genetic testing identified a novel mutation in the COL3A1 gene, confirming the diagnosis of vEDS. This case report provides a near-term perspective on the identification of structural abnormalities in the COL3A1 protein to ensure the safety of endovascular therapy for patients with vEDS.

A 46-year-old man with vascular Ehlers-Danlos syndrome (EDS) had an open ankle fracture with a 10 × 5-cm skin defect on the medial side of the ankle. The patient underwent open reduction and internal fixation, as well as coverage of the skin defect with a posterior tibial artery perforator flap, which led to successful outcomes.
We present the successful implementation of a posterior tibial artery perforator flap for the reconstruction of skin defects in a patient with vascular EDS. Despite the fragility of soft tissues, favorable surgical outcomes were observed.

BACKGROUND: Primary spontaneous pneumothorax (PSP) is a manifestation of Vascular Ehlers-Danlos syndrome (vEDS) caused by heterozygous mutations in the COL3A1 gene. vEDS is a rare inherited disorder with an prevalence of one in 150,000. It can causes PSP and severe fragility of connective tissues with arterial but it remains poorly defined on clinical grounds and diagnose. Through this report, we hoped to help clinicians further understand the characteristics of vEDS.
METHODS: A 22-year-old man presented with recurrent pneumothorax, hemoptysis, and chest pain. Physical examination revealed remarkable hypermobility of the small joints and translucent skin with visible veins. Chest computed tomography (CT) showed pneumothorax and multiple pulmonary cavities.
RESULTS: Genomic deoxyribonucleic acid (DNA) was extracted from patients. Heterozygosity was observed in all 3 novel variants. The main variant is COL3A1, c.3256-43T > G(NM_000090.3), which represents a missense mutation in collagen type III alpha 1 that can lead to vEDS. The other 2 mutations were FLNB c.4814G > A(NM_001457.3) and TSC2 c.3145G > A (NM_000548.3). These variants were validated by Sanger sequencing of their parents. COL3A1was not detected in either of the parent strains. FLNB and TSC2 were detected in his mother.
METHODS: Vascular Ehlers-Danlos syndrome.
CONCLUSIONS: Both COL3A1 and TSC2 gene mutations can cause PSP; however, to the best of our knowledge, there are no reports on these 2 gene mutations in 1 patient at the same time.

Ehlers-Danlos syndrome (EDS) is a relatively rare syndrome characterized by excessive stretching of the skin and joints and hemorrhage and increased tissue fragility due to abnormal collagen. Particularly, vascular type EDS has been associated with type III collagen-rich aorta and intestinal tract fragility, owing to which young people are at a risk of spontaneous arterial rupture, aneurysm, aortic dissection, and gastrointestinal perforation. However, there have been few reports regarding gastric submucosal hematoma caused by EDS. Herein, we presented the case of a 29-year-old man who was diagnosed with EDS during his childhood and used to attend another hospital. He visited our hospital after developing epigastralgia and vomiting. The patient presented with pyloric stenosis caused by gastric antrum submucosal hematoma as revealed via abdominal contrast-enhanced computed tomography (CT), esophagogastroduodenoscopy (EGD), and endoscopic ultrasonography. He was admitted and underwent conservative therapy in addition to fasting, drip infusion, and tube feeding. The follow-up CT and EGD revealed hematoma shrinkage, after which he was discharged as no further deterioration was observed. Thus, based on the observed EDS characteristics, an accurate diagnosis is warranted to avoid unnecessary invasive therapy.

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BACKGROUND: Ehlers-Danlos syndrome (EDS) is a group of connective tissue disorders of altered collagen synthesis. People with vascular EDS are at increased risk for vascular and hollow viscous rupture. Heavy menstrual bleeding (HMB) is common among adolescents with EDS. The levonorgestrel intrauterine device (LNG-IUD) is an effective treatment option for HMB; however, its use in patients with vascular EDS has historically been avoided due to perceived risk of uterine rupture. This is the first known case report on use of the LNG-IUD in an adolescent with vascular EDS.
METHODS: A 16-year-old female with vascular EDS and HMB underwent placement of the LNG-IUD. Placement of the device was performed in the operating room under ultrasound guidance. At the 6-month follow-up, the patient reported significant improvement in bleeding and high satisfaction. No complications were identified at the time of placement or follow-up.
CONCLUSIONS: LNG-IUD may be a safe and effective option for menstrual management in individuals with vascular EDS.

Parturients with vascular Ehlers-Danlos syndrome are at particular risk of hemorrhage, and there is little evidence to guide prevention or management of hemorrhage in these patients. We present the case of a patient with vascular Ehlers-Danlos syndrome who had a cesarean delivery complicated by an intraoperative hemorrhage. Administration of desmopressin and tranexamic acid appeared to be of marked benefit in achieving hemostasis. To the best of our knowledge, this is the first report of the use of desmopressin during major obstetric hemorrhage in vascular Ehlers-Danlos syndrome.

BACKGROUND: The vascular form of Ehlers-Danlos syndromes occurs due to alterations in the COL3A1 gene. It has been associated with major vascular and hollow organ complications, leading to increased morbidity and mortality rates with pregnancy.
METHODS: We report a woman (gravida 9, para 9) diagnosed with vascular Ehlers-Danlos syndrome in her 70s after bowel rupture. Genetic testing revealed a null mutation in COL3A1 that is predicted to result in haploinsufficiency. Preceding diagnosis, she had 9 pregnancies with minimal complications.
CONCLUSIONS: While no evidence-based guidelines for obstetric care in vascular Ehlers-Danlos syndrome have been well-established, patients often are counseled and followed as high-risk pregnancies.
CONCLUSIONS: Null mutations resulting in haploinsufficiency likely have lower pregnancy risks than reported in the literature for vascular Ehlers-Danlos syndrome overall. Thus, understanding the specific COL3A1 mutation may help optimize counseling regarding pregnancy and facilitate decision-making regarding management.

Ehlers-Danlos type IV or vascular Ehlers-Danlos syndrome (vEDS) is a rare inherited disorder characterized by profound vascular fragility resulting from defective production of type III procollagen. Cerebrovascular diseases including spontaneous dissections, cerebral aneurysms, and cavernous carotid fistulae are common. Endovascular therapies in this patient population are known to be higher risk, although many studies (before 2000) involved older techniques and equipment. The purpose of this study is to investigate the safety and efficacy of modern neuroendovascular techniques in the treatment of cerebrovascular diseases in patients with vEDS.
We combined a multi-institutional retrospective case series at 3 quaternary-care centers with a systematic literature review of individual case reports and case series spanning 2000-2021 to evaluate the safety and efficacy of neuroendovascular procedure in patients with vEDS with cerebrovascular diseases.
Fifty-nine patients who underwent 66 neuroendovascular procedures were evaluated. Most of the patients had direct cavernous carotid fistulas (DCCF). Neuroendovascular procedures had a 94% success rate, with a complication rate of 30% and a mortality of 7.5%.
Neuroendovascular procedures can be performed with a high rate of success in the treatment of cerebrovascular diseases in patients with vEDS, although special care is required because complication rates and mortality are high. Access site and procedure-related vascular injuries remain a significant hurdle in treating vEDS with cerebrovascular diseases, even with modern techniques.